A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641940



Internal ID6682022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:21676506..21677838hg38UCSC Ensembl
Innerchr18:21676556..21677788hg38UCSC Ensembl
Outerchr18:21676456..21677888hg38UCSC Ensembl
chr18:19256467..19257799hg19UCSC Ensembl
Innerchr18:19256517..19257749hg19UCSC Ensembl
Outerchr18:19256417..19257849hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg381333
hg191333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15818635
SamplesHG03910
Known GenesABHD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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